research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
Search
for
Sort by
Research
60-90 / 1000+ results research Hypotrichosis with juvenile macular dystrophy: a case report with molecular study
A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
research THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME
Middle-aged women with dilated cardiomyopathy should be screened for antiphospholipid syndrome.
research Sexuality in Patients with Hidradenitis Suppurativa: Beliefs, Behaviors and Needs
Hidradenitis suppurativa negatively affects patients' sexual lives and relationships, highlighting the need for better support and communication about sexual health.
research CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
research Increased Prevalence of Bipolar Disorders in Hidradenitis Suppurativa: More Than a Striking Coexistence?
People with hidradenitis suppurativa are more likely to have bipolar disorder than those with psoriasis or without skin conditions.
research Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
Certain mutations in the H6PD gene cause Cortisone Reductase Deficiency by affecting hormone production.
research Hidradenitis Suppurativa as a Potential Subtype of Autoinflammatory Keratinization Disease
Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research https://researchopenworld.com/genetics-of-hidradenitis-suppurativa/#
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
research Beyond ECMO Survival: Long-Term Symptom Burden and Quality-of-Life Impairment in Hantavirus Cardiopulmonary Syndrome Survivors
Hantavirus survivors often face long-term health issues, needing ongoing care.
research Hereditary vitamin D rickets: a case series in a family
Three siblings with a genetic form of rickets showed different symptoms of the disease.
research Acute inflammatory demyelinating polyneuropathy associated with pegylated interferon α 2a therapy for chronic hepatitis C virus infection
Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
research The use of diphencyprone in dermatology: A retospective audit
Diphencyprone treatment protocols could be simplified as no harm occurred despite not fully following them.
research Importance of a multi-tiered treatment approach for intellectually and developmentally disabled patients with hidradenitis suppurativa
A multi-tiered treatment approach is crucial for managing hidradenitis suppurativa in patients with intellectual and developmental disorders.
research Hair Lightening of Three Hemodialysis Patients Under Heptaminol
Heptaminol may cause hair lightening in hemodialysis patients.
research Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function
A specific gene mutation causes vitamin D resistance, but certain vitamin D analogs might help.
research 11β-Hydroxysteroid Dehydrogenase Type 1 Inhibition Attenuates the Adverse Effects of Glucocorticoids on Dermal Papilla Cells
Blocking 11β-HSD1 can lessen the harmful effects of glucocorticoids on hair growth cells.
research 258 11β-hydroxysteroid dehydrogenase type 1 inhibition attenuates the adverse effects of glucocorticoids on dermal papilla cells
Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research 4. Bullous/Mucous Membrane
High blood pressure drugs often cause skin lupus, stopping the drug usually helps. A vaccine helps prevent genital herpes and HPV-16. More frequent light therapy clears psoriasis faster. No link was found between low iron and chronic hair loss.
research Hidradenitis suppurativa: A folliculotropic disease of innate immune barrier dysfunction?
Hidradenitis suppurativa is a skin disease caused by the breakdown of the skin's natural immune barriers, especially around hair follicles.
research Dihydroartemisinin attenuates benign prostatic hyperplasia in rats by inhibiting prostatic epithelial cell proliferation
Dihydroartemisinin helps reduce prostate enlargement in rats by stopping the growth of prostate cells.
research Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
research Dapsone Therapy for Pustular Psoriasis: Case Series and Review of the Literature
Dapsone improved pustular psoriasis in patients who didn't respond to other treatments and is considered a well-tolerated option.
research A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia
A new gene variant in the DSP gene is linked to a unique type of hair loss.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Pathogenesis of Hand-Foot Syndrome induced by PEG-modified liposomal Doxorubicin
PEGL-DOX causes Hand-Foot Syndrome due to skin reactions from prolonged circulation and ROS generation.
research Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages
The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.